Search results for "CHROMOSOME PAINTING"
showing 10 items of 14 documents
Diffuse Type of Giant-Cell Tumor of Tendon Sheath: An Ultrastructural Study of Two Cases With Cytogenetic Support
2002
Two cases of the diffuse type of giant-cell tumor of the tendon sheath (GCTTS) are described. Both tumors arose in the vicinity of large joints of the lower extremity, showing similar clinical and radiological features. Histologically, a proliferation of polygonal mononuclear cells was seen, together with osteoclastlike giant cells, foam cells, and siderophages. The tumors were poorly delineated, displaying an infiltrative pattern into the neighboring soft tissues. Immunohistochemically, strong expression of vimentin, neuron-specific enolase, A1-antitrypsin, and CD68 was found in both mono- and multinucleated tumor cells. At the ultrastructural level, mononuclear cells revealed a diverse mo…
Chromosome painting for cytogenetic monitoring of occupationally exposed and non-exposed groups of human individuals.
2001
The suitability of a three-color fluorescence in situ suppression hybridization technique was examined for monitoring five different groups of individuals: 30 occupied in radiology, 26 occupied in nuclear medicine or radiation physics, 32 patients with breast cancer, 26 occupied with military waste disposal, all presumably exposed to low doses of radiation or chemical mutagens and a non-exposed control group (N=29). The average frequency of breaks constituting the various aberrations did not significantly differ between the groups of medical radiation appliers and the control group. However, breast tumor patients and military waste disposers, as groups, showed a higher aberration rate than …
RECONSTRUCTION OF GENOMIC REARRANGEMENTS IN AFRICAN DORMICE (RODENTIA-GLIRIDAE) BY CROSS-SPECIES CHROMOSOME PAINTING AND HUMAN SYNTENIC ASSOCIATION A…
2008
ABSTRACT
Chromosome painting of the pygmy tree shrew shows that no derived cytogenetic traits link primates and scandentia.
2012
We hybridized human chromosome paints on metaphases of the pygmy tree shrew (<i>Tupaia minor</i>, Scandentia). The lack of the ancestral mammalian 4/8 association in both Primates and Scandentia was long considered a cytogenetic landmark that phylogenetically linked these mammalian orders. However, our results show that the association 4/8 is present in <i>Tupaia </i>along with not previously reported associations for 1/18 and 7/10. Altogether there are 11 syntenic associations of human chromosome segments in the pygmy tree shrew karyotype: 1/18, 2/21, 3/21, 4/8, 7/10, 7/16, 11/20, 12/22 (twice), 14/15 and 16/19. Our data remove any cytogenetic evidence that Scandent…
Eight million years of maintained heterozygosity in chromosome homologs of cercopithecine monkeys
2020
In the Cercopithecini ancestor two chromosomes, homologous to human chromosomes 20 and 21, fused to form the Cercopithecini specific 20/21 association. In some individuals from the genus Cercopithecus, this association was shown to be polymorphic for the position of the centromere, suggesting centromere repositioning events. We set out to test this hypothesis by defining the evolutionary history of the 20/21 association in four Cercopithecini species from three different genera. The marker order of the various 20/21 associations was established using molecular cytogenetic techniques, including an array of more than 100 BACs. We discovered that five different forms of the 20/21 association w…
Reconstructing the Phylogeny of the Human Chromosome 4 Synteny using Comparative Karyology and Genomic Data Analysis
2010
Abstract This work focuses on the evolution of the architecture of human chromosome 4 (HSA4) through the analysis of chromosomal regions that have been conserved over time, and the comparison of regions that have been involved in different rearrangements in placental lineages. As with most elements of the human genome, HSA4 is considered to be evolutionarily stable. A more detailed analysis indicates that the syntenic association has been reshuffled by a series of rearrangements, yielding different chromosomes in various taxa. In its ancestral eutherian state, HSA4 has a syntenic association with HSA8p. We investigated the complex origin of this human chromosome using three different approa…
Complete karyotype characterization of the K562 cell line by combined application of G-banding, multiplex-fluorescence in situ hybridization, fluores…
2001
This study combines conventional cytogenetics, fluorescence in situ hybridization (FISH), multiplex-FISH and comparative genomic hybridization (CGH). In applying this multimodal approach on the human leukemia cell line K562, the chromosome composition was refined in detail and compared with data from the literature. A hypotriploid karyotype with a modal chromosome number of 67, and 21 unique marker chromosomes were identified. The classification of six markers was identical to published data and the composition of five further markers from the literature could be fully clarified for the first time. The composition of another five markers, which have been interpreted in divergent ways in dif…
Genetic aspects in hominid evolution
2000
Genomic comparison between apes and humans have made important contributions to our understanding of human evolution. The modern period of karyological comparisons between humans and other primates began about forty years ago and has been marked by a series of technical revolutions. In the 1960s pioneering genetic and chromosomal comparisons of human and great apes suggested, as had Darwin a century before, that our closest relative were the African apes. Early immunological analyses placed human/apes divergence at about five million year ago. Acceptance of man’s late divergence from the African apes was delayed by the scarcity of paleontological evidence coupled with a fallacious Asiatic o…
Mapping genomic rearrangements in titi monkeys by chromosome flow sorting and multidirectional in-situ hybridization.
2004
We developed chromosome painting probes for Callicebus pallescens from flow-sorted chromosomes and used multidirectional chromosome painting to investigate the genomic rearrangements in C. cupreus and C. pallescens. Multidirectional painting provides information about chromosomal homologies at the subchromosomal level and rearrangement break points, allowing chromosomes to be used as cladistic markers. Chromosome paints of C. pallescens were hybridized to human metaphases and 43 signals were detected. Then, both human and C. pallescens probes were hybridized to the chromosomes of another titi monkey, C. cupreus. The human chromosome paints detected 45 segments in the haploid karyotype of C.…
Sex reversal from functional disomy of Xp: Prenatal and post-mortem findings.
2008
Translocations involving the short arms of the X and Y chromosomes are uncommon and are often associated with anomalies in gonadal development. Segmental duplications of the X chromosome interfere with the formation of the testis in patients with a 46,XY karyotype. The gene products located within the duplicated segment, when present in double dose, may affect on male sex development. We report on a fetus with karyotype 46,XY,der (14)t(X;14) (p10;p10)dn. Attached to chromosome 14 is the entire short arm of the X chromosome. Therefore, the fetus is affected with a disomy of Xp, resulting in complete male to female sex reversal, as well as other structural defects. To the best of our knowledg…